Canonical Allele Identifier: CA2501861874
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.43168917C>G , CM000683.2:g.43168917C>G GRCh38
NG_009823.1:g.4887C>G

Transcript Alleles

HGVS Amino-acid Change
XR_001755073.1:n.647+2120G>C